Disease Directory

PDE6A-related retinopathy is a rare condition that affects the retina, the light-sensitive tissue at the back of the eye. This disorder occurs due to...

PDE6C-related retinopathy is an eye condition caused by changes in the PDE6C gene. This gene is important for normal retinal function, and its alterat...

PDE6G-related retinopathy is a rare eye condition that arises from changes in the PDE6G gene. This condition affects the retina, which is the light-se...

PEHO syndrome is a rare neurodegenerative disorder that belongs to a group called infantile progressive encephalopathies. The condition is noted for i...

PEHO-like syndrome is a rare genetic neurological condition. It is characterized by progressive encephalopathy, early-onset seizures that have a hypsa...

PENS syndrome is a rare genetic condition that affects both the skin and the nervous system. People with this condition have distinctive skin changes,...

PERCHING syndrome is a rare condition that falls under the category of cold-induced sweating syndromes. It is caused by a mutation in the KLHL7 gene....

PFAPA syndrome is an autoinflammatory condition characterized by recurrent episodes of fever. During these episodes, people with this condition may ex...

PGM1-congenital disorder of glycosylation is a very rare multisystem condition caused by changes in the PGM1 gene, which affects essential enzyme func...

PHACE syndrome is a rare condition characterized by a combination of posterior fossa brain malformations, large facial hemangiomas, and various anatom...

PHARC syndrome is a rare, slowly-progressive condition that affects the nerves and several parts of the body. People with this condition may experienc...

PHAVER syndrome is a very rare condition that affects several parts of the body. It is known by several names including PHAVER syndrome, Powell-Chandr...

PHGDH deficiency is an autosomal recessive metabolic disorder that falls under the serine deficiency syndromes. It is caused by mutations in the PHGDH...

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome is a rare condition that has been identified in people w...

PIK3CA-related overgrowth spectrum is an overgrowth condition that results from pathogenic gain-of-function variants in the PIK3CA gene. These genetic...

PIK3R2-related overgrowth spectrum is a condition characterized by excessive growth and cerebral malformations that arise from gain-of-function varian...

PLA2G6-associated neurodegeneration is a condition characterized by progressive neurological decline related to abnormal iron accumulation in the brai...

Information about the overview is currently limited for this condition.

PLIN1-related familial partial lipodystrophy is a rare condition known by several names such as FPLD4 and PLIN1-related FPLD. It is associated with ch...

PMM2-congenital disorder of glycosylation (PMM2-CDG) is a rare inherited metabolic condition in which the enzyme phosphomannomutase 2 does not work we...